Canonical Allele Identifier: CA2690187740

Gene: FXN

Linked Data

• gnomAD v4: 9-69035990-G-GGGCGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035991_69035992insGCGCACG , CM000671.2:g.69035991_69035992insGCGCACG	GRCh38
NC_000009.11:g.71650907_71650908insGCGCACG , CM000671.1:g.71650907_71650908insGCGCACG	GRCh37
NC_000009.10:g.70840727_70840728insGCGCACG	NCBI36
NG_008845.2:g.5429_5430insGCGCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.165+44_165+45insGCGCACG MANE Select	ENSP00000419243.2:n.165+44_165+45insGCGCACG
ENST00000642330.1:c.165+44_165+45insGCGCACG	ENSP00000493770.1:n.165+44_165+45insGCGCACG
ENST00000642889.1:c.165+44_165+45insGCGCACG	ENSP00000493780.1:n.165+44_165+45insGCGCACG
ENST00000643352.1:c.165+44_165+45insGCGCACG	ENSP00000496488.1:n.165+44_165+45insGCGCACG
ENST00000643765.1:c.163+44_163+45insGCGCACG
ENST00000644653.1:c.165+44_165+45insGCGCACG	ENSP00000495217.1:n.165+44_165+45insGCGCACG
ENST00000644977.1:c.165+44_165+45insGCGCACG	ENSP00000495651.1:n.165+44_165+45insGCGCACG
ENST00000645088.1:c.165+44_165+45insGCGCACG	ENSP00000495447.1:n.165+44_165+45insGCGCACG
ENST00000646862.1:c.165+44_165+45insGCGCACG	ENSP00000494599.1:n.165+44_165+45insGCGCACG
ENST00000377270.7:c.165+44_165+45insGCGCACG	ENSP00000366482.3:n.165+44_165+45insGCGCACG
ENST00000396364.7:c.165+44_165+45insGCGCACG	ENSP00000379650.3:n.165+44_165+45insGCGCACG
ENST00000396366.6:c.165+44_165+45insGCGCACG	ENSP00000379652.2:n.165+44_165+45insGCGCACG
NM_000144.4:c.165+44_165+45insGCGCACG	NP_000135.2:n.165+44_165+45insGCGCACG
NM_001161706.1:c.165+44_165+45insGCGCACG	NP_001155178.1:n.165+44_165+45insGCGCACG
NM_181425.2:c.165+44_165+45insGCGCACG	NP_852090.1:n.165+44_165+45insGCGCACG
NM_000144.5:c.165+44_165+45insGCGCACG MANE Select	NP_000135.2:n.165+44_165+45insGCGCACG
NM_181425.3:c.165+44_165+45insGCGCACG	NP_852090.1:n.165+44_165+45insGCGCACG